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Neuromuscular Disorders : NMD|May 7, 2010
Mitochondrial DNA depletion syndromes--many genes, common mechanismsAnu Suomalainen, Pirjo Isohanni
Duodecim; Laaketieteellinen Aikakauskirja|December 1, 2017
Myotonia in ion channel diseases of muscleJuhani Partanen, Pirjo Isohanni, Mari Auranen
Human Mutation|June 10, 2016
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA SyndromeTarja Linnankivi, Nirajan Neupane, Uwe Richter, et al.
Clinical Neurophysiology Practice|March 5, 2024
Without ENMG, detecting pediatric vincristine neuropathy is a challengeKreeta Viinikainen, Pirjo Isohanni, Jukka Kanerva, et al.
Journal of Neuropathology and Experimental Neurology|May 16, 2015
Leigh syndrome: neuropathology and pathogenesisNicole J Lake, Matthew J Bird, Pirjo Isohanni, et al.
European Journal of Human Genetics : EJHG|December 22, 2016
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathyCatalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, et al.
Brain : a Journal of Neurology|October 9, 2007
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletionAnna H Hakonen, Pirjo Isohanni, Anders Paetau, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegiaEmil Ylikallio, Doyoun Kim, Pirjo Isohanni, et al.
Pediatric Research|August 10, 2023
Genetic etiology of progressive pediatric neurological disordersJuho Aaltio, Anna Etula, Simo Ojanen, et al.
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